Results 131 to 140 of about 15,202 (200)

Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity. [PDF]

Hum Mol Genet
Aljammal R, Saravanan T, Guan T, Rhodes S, Robichaux MA, Ramamurthy V.   +5 more
europepmc   +1 more source

Elimination of a Retinal Riboflavin Binding Protein Exacerbates Degeneration in a Model of Cone-Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2020
Genc AM, Makia MS, Sinha T, Conley SM, Al-Ubaidi MR, Naash MI.   +5 more
europepmc   +1 more source

Cone and cone-rod dystrophies. [PDF]

Journal of Medical Genetics, 1992
openaire   +2 more sources

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
et al,, Montague, Michael J
core   +1 more source

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness. [PDF]

J Biol Chem, 2020
Peshenko IV, Olshevskaya EV, Dizhoor AM.
europepmc   +1 more source

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. [PDF]

Invest Ophthalmol Vis Sci, 2020
Jespersgaard C, Hey AB, Ilginis T, Hjortshøj TD, Fang M, Bertelsen M, Bech N, Jensen H, Larsen LJ, Tümer Z, Rosenberg T, Brøndum-Nielsen K, Møller LB, Grønskov K.   +13 more
europepmc   +1 more source

The role of the voltage-gated potassium channel proteins Kv8.2 and Kv2.1 in vision and retinal disease: Insights from the study of mouse gene knock-out mutations [PDF]

, 2019
Barth, Melanie, Carvalho, Livia S, Fuller-Carter, Paula, Hart, Nathan S, Hunt, David M, Mountford, Jessica K, Nerbonne, Jeanne M, Voigt, Valentina   +7 more
core   +1 more source

The importance of electrophysiological and imaging methods in the diagnostics of inherited retinal degenerations: Genotype-phenotype correlations [PDF]

, 2015
Zobor, Annamária Ditta
core   +1 more source

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. [PDF]

Hum Mutat, 2020
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F.   +30 more
europepmc   +1 more source

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2019
Sheikh SA, Sisk RA, Schiavon CR, Waryah YM, Usmani MA, Steel DH, Sayer JA, Narsani AK, Hufnagel RB, Riazuddin S, Kahn RA, Waryah AM, Ahmed ZM.   +12 more
europepmc   +1 more source